Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636Etiological subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены74
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PPIP5K2 | diphosphoinositol pentakisphosphate kinase 2 | Disease-causing germline mutation(s) in | gene with protein product | 611648 |
| TMEM132E | transmembrane protein 132E | Disease-causing germline mutation(s) in | gene with protein product | 616178 |
| GRAP | GRB2 related adaptor protein | Disease-causing germline mutation(s) in | gene with protein product | 604330 |
| BDP1 | BDP1 general transcription factor IIIB subunit | Disease-causing germline mutation(s) in | gene with protein product | 607012 |
| AFG2B | AAA ATPase AFG2B | Disease-causing germline mutation(s) in | gene with protein product | 619578 |
| CEACAM16 | CEA cell adhesion molecule 16, tectorial membrane component | Disease-causing germline mutation(s) in | gene with protein product | 614591 |
| NARS2 | asparaginyl-tRNA synthetase 2, mitochondrial | Disease-causing germline mutation(s) in | gene with protein product | 612803 |
| ROR1 | receptor tyrosine kinase like orphan receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 602336 |
| WBP2 | WW domain binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 606962 |
| EPS8L2 | EPS8 signaling adaptor L2 | Disease-causing germline mutation(s) in | gene with protein product | 614988 |
| SLC26A4 | solute carrier family 26 member 4 | Disease-causing germline mutation(s) in | gene with protein product | 605646 |
| BSND | barttin CLCNK type accessory subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 606412 |
| CDH23 | cadherin related 23 | Disease-causing germline mutation(s) in | gene with protein product | 605516 |
| TECTA | tectorin alpha | Disease-causing germline mutation(s) in | gene with protein product | 602574 |
| TMC1 | transmembrane channel like 1 | Disease-causing germline mutation(s) in | gene with protein product | 606706 |
| TMIE | transmembrane inner ear | Disease-causing germline mutation(s) in | gene with protein product | 607237 |
| TMPRSS3 | transmembrane serine protease 3 | Disease-causing germline mutation(s) in | gene with protein product | 605511 |
| USH1C | USH1 protein network component harmonin | Disease-causing germline mutation(s) in | gene with protein product | 605242 |
| COL11A2 | collagen type XI alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120290 |
| ELMOD3 | ELMO domain containing 3 | Disease-causing germline mutation(s) in | gene with protein product | 615427 |
| GJB2 | gap junction protein beta 2 | Disease-causing germline mutation(s) in | gene with protein product | 121011 |
| GJB3 | gap junction protein beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 603324 |
| GJB6 | gap junction protein beta 6 | Disease-causing germline mutation(s) in | gene with protein product | 604418 |
| MET | MET proto-oncogene, receptor tyrosine kinase | Disease-causing germline mutation(s) in | gene with protein product | 164860 |
| MYO15A | myosin XVA | Disease-causing germline mutation(s) in | gene with protein product | 602666 |
| MYO6 | myosin VI | Disease-causing germline mutation(s) in | gene with protein product | 600970 |
| MYO7A | myosin VIIA | Disease-causing germline mutation(s) in | gene with protein product | 276903 |
| OTOF | otoferlin | Disease-causing germline mutation(s) in | gene with protein product | 603681 |
| PCDH15 | protocadherin related 15 | Disease-causing germline mutation(s) in | gene with protein product | 605514 |
| WHRN | whirlin | Disease-causing germline mutation(s) in | gene with protein product | 607928 |
| STRC | stereocilin | Disease-causing germline mutation(s) in | gene with protein product | 606440 |
| TRIOBP | TRIO and F-actin binding protein | Disease-causing germline mutation(s) in | gene with protein product | 609761 |
| RDX | radixin | Disease-causing germline mutation(s) in | gene with protein product | 179410 |
| LHFPL5 | LHFPL tetraspan subfamily member 5 | Disease-causing germline mutation(s) in | gene with protein product | 609427 |
| ESPN | espin | Disease-causing germline mutation(s) in | gene with protein product | 606351 |
| ESRRB | estrogen related receptor beta | Disease-causing germline mutation(s) in | gene with protein product | 602167 |
| MARVELD2 | MARVEL domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 610572 |
| MYO3A | myosin IIIA | Disease-causing germline mutation(s) in | gene with protein product | 606808 |
| SLC26A5 | solute carrier family 26 member 5 | Disease-causing germline mutation(s) in | gene with protein product | 604943 |
| OTOA | otoancorin | Disease-causing germline mutation(s) in | gene with protein product | 607038 |
| PJVK | pejvakin | Disease-causing germline mutation(s) in | gene with protein product | 610219 |
| CLDN14 | claudin 14 | Disease-causing germline mutation(s) in | gene with protein product | 605608 |
| LRTOMT | leucine rich transmembrane and O-methyltransferase domain containing | Disease-causing germline mutation(s) in | gene with protein product | 612414 |
| HGF | hepatocyte growth factor | Disease-causing germline mutation(s) in | gene with protein product | 142409 |
| LOXHD1 | lipoxygenase homology PLAT domains 1 | Disease-causing germline mutation(s) in | gene with protein product | 613072 |
| GRXCR1 | glutaredoxin and cysteine rich domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 613283 |
| TPRN | taperin | Disease-causing germline mutation(s) in | gene with protein product | 613354 |
| PTPRQ | protein tyrosine phosphatase receptor type Q | Disease-causing germline mutation(s) in | gene with protein product | 603317 |
| SERPINB6 | serpin family B member 6 | Disease-causing germline mutation(s) in | gene with protein product | 173321 |
| TBC1D24 | TBC1 domain family member 24 | Disease-causing germline mutation(s) in | gene with protein product | 613577 |
| GPSM2 | G protein signaling modulator 2 | Disease-causing germline mutation(s) in | gene with protein product | 609245 |
| MSRB3 | methionine sulfoxide reductase B3 | Disease-causing germline mutation(s) in | gene with protein product | 613719 |
| ILDR1 | immunoglobulin like domain containing receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 609739 |
| KARS1 | lysyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in | gene with protein product | 601421 |
| GIPC3 | GIPC PDZ domain containing family member 3 | Disease-causing germline mutation(s) in | gene with protein product | 608792 |
| CIB2 | calcium and integrin binding family member 2 | Disease-causing germline mutation(s) in | gene with protein product | 605564 |
| CABP2 | calcium binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 607314 |
| OTOG | otogelin | Disease-causing germline mutation(s) in | gene with protein product | 604487 |
| PNPT1 | polyribonucleotide nucleotidyltransferase 1 | Disease-causing germline mutation(s) in | gene with protein product | 610316 |
| OTOGL | otogelin like | Disease-causing germline mutation(s) in | gene with protein product | 614925 |
| SYNE4 | spectrin repeat containing nuclear envelope family member 4 | Disease-causing germline mutation(s) in | gene with protein product | 615535 |
| SLITRK6 | SLIT and NTRK like family member 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609681 |
| GRXCR2 | glutaredoxin and cysteine rich domain containing 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615762 |
| EPS8 | EGFR pathway substrate 8, signaling adaptor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600206 |
| ADCY1 | adenylate cyclase 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 103072 |
| CLIC5 | chloride intracellular channel 5 | Disease-causing germline mutation(s) in | gene with protein product | 607293 |
| RIPOR2 | RHO family interacting cell polarization regulator 2 | Disease-causing germline mutation(s) in | gene with protein product | 611410 |
| DCDC2 | doublecortin domain containing 2 | Disease-causing germline mutation(s) in | gene with protein product | 605755 |
| ATP2B2 | ATPase plasma membrane Ca2+ transporting 2 | Modifying germline mutation in | gene with protein product | 108733 |
| S1PR2 | sphingosine-1-phosphate receptor 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605111 |
| MPZL2 | myelin protein zero like 2 | Disease-causing germline mutation(s) in | gene with protein product | 604873 |
| CDC14A | cell division cycle 14A | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603504 |
| GJA1 | gap junction protein alpha 1 | Candidate gene tested in | gene with protein product | 121014 |
| MINAR2 | membrane integral NOTCH2 associated receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 620215 |
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)